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Items: 1 to 50 of 543

1.

Newborn screening for homocystinurias: recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi Vici C, Gleich F, Morris AA, Kožich V, Huemer M; and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner C, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2018 Jun 15. doi: 10.1007/s10545-018-0213-0. [Epub ahead of print]

PMID:
29943221
2.

Extracellular nanovesicles released from the commensal yeast Malassezia sympodialis are enriched in allergens and interact with cells in human skin.

Johansson HJ, Vallhov H, Holm T, Gehrmann U, Andersson A, Johansson C, Blom H, Carroni M, Lehtiö J, Scheynius A.

Sci Rep. 2018 Jun 15;8(1):9182. doi: 10.1038/s41598-018-27451-9.

3.

Quantification of endogenous and exogenous protein expressions of Na,K-ATPase with super-resolution PALM/STORM imaging.

Bernhem K, Blom H, Brismar H.

PLoS One. 2018 Apr 25;13(4):e0195825. doi: 10.1371/journal.pone.0195825. eCollection 2018.

4.

Active and inactive β1 integrins segregate into distinct nanoclusters in focal adhesions.

Spiess M, Hernandez-Varas P, Oddone A, Olofsson H, Blom H, Waithe D, Lock JG, Lakadamyali M, Strömblad S.

J Cell Biol. 2018 Jun 4;217(6):1929-1940. doi: 10.1083/jcb.201707075. Epub 2018 Apr 9.

PMID:
29632027
5.

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells.

Esse R, Teerlink T, Koolwijk P, Tavares de Almeida I, Blom HJ, Castro R.

Nutrients. 2018 Mar 24;10(4). pii: E404. doi: 10.3390/nu10040404.

6.

Sexual dimorphism in the width of the mouse synaptonemal complex.

Agostinho A, Kouznetsova A, Hernández-Hernández A, Bernhem K, Blom H, Brismar H, Höög C.

J Cell Sci. 2018 Mar 6;131(5). pii: jcs212548. doi: 10.1242/jcs.212548.

PMID:
29420300
7.

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Poloni S, Sperb-Ludwig F, Borsatto T, Weber Hoss G, Doriqui MJR, Embiruçu EK, Boa-Sorte N, Marques C, Kim CA, Fischinger Moura de Souza C, Rocha H, Ribeiro M, Steiner CE, Moreno CA, Bernardi P, Valadares E, Artigalas O, Carvalho G, Wanderley HYC, Kugele J, Walter M, Gallego-Villar L, Blom HJ, Schwartz IVD.

Mol Genet Genomic Med. 2018 Mar;6(2):160-170. doi: 10.1002/mgg3.342. Epub 2018 Jan 20.

8.

Multi-omic approach decodes paradoxes of the triple-negative breast cancer: lessons for predictive, preventive and personalised medicine.

Golubnitschaja O, Filep N, Yeghiazaryan K, Blom HJ, Hofmann-Apitius M, Kuhn W.

Amino Acids. 2018 Apr;50(3-4):383-395. doi: 10.1007/s00726-017-2524-0. Epub 2017 Dec 16.

PMID:
29249020
9.

Confocal super-resolution imaging of the glomerular filtration barrier enabled by tissue expansion.

Unnersjö-Jess D, Scott L, Sevilla SZ, Patrakka J, Blom H, Brismar H.

Kidney Int. 2018 Apr;93(4):1008-1013. doi: 10.1016/j.kint.2017.09.019. Epub 2017 Dec 11.

10.

Tonsillotomy versus tonsillectomy in adults suffering from tonsil-related afflictions: a systematic review.

Wong Chung JERE, van Benthem PPG, Blom HM.

Acta Otolaryngol. 2018 May;138(5):492-501. doi: 10.1080/00016489.2017.1412500. Epub 2017 Dec 15.

PMID:
29241412
11.

The NIMO Scandinavian Study: A Prospective Observational Study of Iron Isomaltoside Treatment in Patients with Iron Deficiency.

Frigstad SO, Haaber A, Bajor A, Fallingborg J, Hammarlund P, Bonderup OK, Blom H, Rannem T, Hellström PM.

Gastroenterol Res Pract. 2017;2017:4585164. doi: 10.1155/2017/4585164. Epub 2017 Oct 22.

12.

Definition and dynamic control of a continuous chromatography process independent of cell culture titer and impurities.

Chmielowski RA, Mathiasson L, Blom H, Go D, Ehring H, Khan H, Li H, Cutler C, Lacki K, Tugcu N, Roush D.

J Chromatogr A. 2017 Dec 1;1526:58-69. doi: 10.1016/j.chroma.2017.10.030. Epub 2017 Oct 13.

PMID:
29078985
13.

Folic Acid Impairs the Uptake of 5-Methyltetrahydrofolate in Human Umbilical Vascular Endothelial Cells.

Smith D, Hornstra J, Rocha M, Jansen G, Assaraf Y, Lasry I, Blom H, Smulders YM.

J Cardiovasc Pharmacol. 2017 Oct;70(4):271-275. doi: 10.1097/FJC.0000000000000514.

14.

Multifocus structured illumination microscopy for fast volumetric super-resolution imaging.

Abrahamsson S, Blom H, Agostinho A, Jans DC, Jost A, Müller M, Nilsson L, Bernhem K, Lambert TJ, Heintzmann R, Brismar H.

Biomed Opt Express. 2017 Aug 17;8(9):4135-4140. doi: 10.1364/BOE.8.004135. eCollection 2017 Sep 1.

15.

Introducing universal ultrasound screening for developmental dysplasia of the hip doubled the treatment rate.

Olsen SF, Blom HC, Rosendahl K.

Acta Paediatr. 2018 Feb;107(2):255-261. doi: 10.1111/apa.14057. Epub 2017 Oct 5.

PMID:
28871598
16.

Cerium oxide nanoparticles inhibit differentiation of neural stem cells.

Gliga AR, Edoff K, Caputo F, Källman T, Blom H, Karlsson HL, Ghibelli L, Traversa E, Ceccatelli S, Fadeel B.

Sci Rep. 2017 Aug 24;7(1):9284. doi: 10.1038/s41598-017-09430-8.

17.

Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism.

Poloni S, Spritzer PM, Mendes RH, D'Almeida V, Castro K, Sperb-Ludwig F, Kugele J, Tucci S, Blom HJ, Schwartz IVD.

Clin Chim Acta. 2017 Oct;473:82-88. doi: 10.1016/j.cca.2017.08.005. Epub 2017 Aug 8.

PMID:
28801090
18.

Corrigendum: Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.

Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ.

Front Mol Biosci. 2017 Aug 8;4:53. doi: 10.3389/fmolb.2017.00053. eCollection 2017.

19.

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Röeben B, Marquetand J, Bender B, Billing H, Haack TB, Sanchez-Albisua I, Schöls L, Blom HJ, Synofzik M.

Orphanet J Rare Dis. 2017 Aug 1;12(1):135. doi: 10.1186/s13023-017-0687-0.

20.

A curious case of PICC line knot formation.

Keulemans S, Voormolen M, Deplancke M, Blom H.

Arch Dis Child Fetal Neonatal Ed. 2017 Nov;102(6):F538. doi: 10.1136/archdischild-2017-313015. Epub 2017 Jul 22. No abstract available.

PMID:
28735266
21.

Paediatric reference values for total homocysteine, tryptophan, tyrosine and phenylalanine in blood spots.

Bergwerff CE, Luman M, Blom HJ, Oosterlaan J.

Scand J Clin Lab Invest. 2017 Oct;77(6):410-414. doi: 10.1080/00365513.2017.1334167. Epub 2017 Jul 5.

PMID:
28678543
22.

Cysteamine revisited: repair of arginine to cysteine mutations.

Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ.

J Inherit Metab Dis. 2017 Jul;40(4):555-567. doi: 10.1007/s10545-017-0060-4. Epub 2017 Jun 22. Review.

23.

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Borsatto T, Sperb-Ludwig F, Lima SE, Carvalho MRS, Fonseca PAS, Camelo JS Jr, Ribeiro EM, de Medeiros PFV, Lourenço CM, de Souza CFM, Boy R, Félix TM, Bittar CM, Pinto LLC, Neto EC, Blom HJ, Schwartz IVD.

PLoS One. 2017 Jun 22;12(6):e0180463. doi: 10.1371/journal.pone.0180463. eCollection 2017.

24.

Development of cyclic shedding teeth from semi-shedding teeth: the inner dental arcade of the stem osteichthyan Lophosteus.

Chen D, Blom H, Sanchez S, Tafforeau P, Märss T, Ahlberg PE.

R Soc Open Sci. 2017 May 17;4(5):161084. doi: 10.1098/rsos.161084. eCollection 2017 May.

25.

Implementation of the hyaluronic acid fat graft myringoplasty technique, pitfalls and lessons learned.

Grotenhuis N, Koopman JP, Kruyt JM, Rothuizen LT, Knevel R, Blom H.

Acta Otolaryngol. 2017 Oct;137(10):1035-1038. doi: 10.1080/00016489.2017.1330556. Epub 2017 May 29. Erratum in: Acta Otolaryngol. 2018 Feb;138(2):i.

PMID:
28554254
26.

Stimulated Emission Depletion Microscopy.

Blom H, Widengren J.

Chem Rev. 2017 Jun 14;117(11):7377-7427. doi: 10.1021/acs.chemrev.6b00653. Epub 2017 Mar 6. Review.

PMID:
28262022
27.

Intrauterine valproate exposure is associated with alterations in hippocampal cell numbers and folate metabolism in a rat model of valproate teratogenicity.

Semmler A, Frisch C, Bleul C, Smith D, Bigler L, Prost JC, Blom H, Linnebank M.

Seizure. 2017 Mar;46:7-12. doi: 10.1016/j.seizure.2017.01.003. Epub 2017 Jan 27.

28.

Hypertext comprehension of deaf and hard-of-hearing students and students with specific language impairment.

Blom H, Segers E, Hermans D, Knoors H, Verhoeven L.

Res Dev Disabil. 2017 Feb;61:127-137. doi: 10.1016/j.ridd.2016.12.014. Epub 2017 Jan 7.

PMID:
28073077
29.

Simultaneous communication supports learning in noise by cochlear implant users.

Blom H, Marschark M, Machmer E.

Cochlear Implants Int. 2017 Jan;18(1):49-56. doi: 10.1080/14670100.2016.1265188. Epub 2016 Dec 23.

30.

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR, Dionisi-Vici C.

J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30. Review.

31.

Homocysteine and disease: Causal associations or epiphenomenons?

Hannibal L, Blom HJ.

Mol Aspects Med. 2017 Feb;53:36-42. doi: 10.1016/j.mam.2016.11.003. Epub 2016 Nov 19. Review.

PMID:
27876556
32.

Three-dimensional paleohistology of the scale and median fin spine of Lophosteus superbus (Pander 1856).

Jerve A, Qu Q, Sanchez S, Blom H, Ahlberg PE.

PeerJ. 2016 Nov 2;4:e2521. doi: 10.7717/peerj.2521. eCollection 2016.

33.

Boreal earliest Triassic biotas elucidate globally depauperate hard substrate communities after the end-Permian mass extinction.

Zatoń M, Niedźwiedzki G, Blom H, Kear BP.

Sci Rep. 2016 Nov 8;6:36345. doi: 10.1038/srep36345.

34.

The stem osteichthyan Andreolepis and the origin of tooth replacement.

Chen D, Blom H, Sanchez S, Tafforeau P, Ahlberg PE.

Nature. 2016 Nov 10;539(7628):237-241. doi: 10.1038/nature19812. Epub 2016 Oct 17.

PMID:
27750278
35.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA.

J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. Review.

36.

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ.

J Inherit Metab Dis. 2017 Jan;40(1):5-20. doi: 10.1007/s10545-016-9972-7. Epub 2016 Sep 26. Review.

37.

Analysis of neural crest-derived clones reveals novel aspects of facial development.

Kaucka M, Ivashkin E, Gyllborg D, Zikmund T, Tesarova M, Kaiser J, Xie M, Petersen J, Pachnis V, Nicolis SK, Yu T, Sharpe P, Arenas E, Brismar H, Blom H, Clevers H, Suter U, Chagin AS, Fried K, Hellander A, Adameyko I.

Sci Adv. 2016 Aug 3;2(8):e1600060. doi: 10.1126/sciadv.1600060. eCollection 2016 Aug.

38.

An automated method measures variability in P-glycoprotein and ABCG2 densities across brain regions and brain matter.

Kannan P, Schain M, Kretzschmar WW, Weidner L, Mitsios N, Gulyás B, Blom H, Gottesman MM, Innis RB, Hall MD, Mulder J.

J Cereb Blood Flow Metab. 2017 Jun;37(6):2062-2075. doi: 10.1177/0271678X16660984. Epub 2016 Jan 1.

39.

Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.

Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ.

Front Mol Biosci. 2016 Jun 27;3:27. doi: 10.3389/fmolb.2016.00027. eCollection 2016. Review. Erratum in: Front Mol Biosci. 2017 Aug 08;4:53.

40.

Profilin connects actin assembly with microtubule dynamics.

Nejedla M, Sadi S, Sulimenko V, de Almeida FN, Blom H, Draber P, Aspenström P, Karlsson R.

Mol Biol Cell. 2016 Aug 1;27(15):2381-93. doi: 10.1091/mbc.E15-11-0799. Epub 2016 Jun 15.

41.

Post-operative morbidity and 1-year outcomes in CO2-laser tonsillotomy versus dissection tonsillectomy.

Lourijsen ES, Wong Chung JE, Koopman JP, Blom HM.

Acta Otolaryngol. 2016 Oct;136(10):983-90. doi: 10.1080/00016489.2016.1183040. Epub 2016 May 25.

PMID:
27224472
42.

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

Barić I, Erdol S, Saglam H, Lovrić M, Belužić R, Vugrek O, Blom HJ, Fumić K.

JIMD Rep. 2017;31:101-106. doi: 10.1007/8904_2016_543. Epub 2016 May 21.

43.

The origin of novel features by changes in developmental mechanisms: ontogeny and three-dimensional microanatomy of polyodontode scales of two early osteichthyans.

Qu Q, Sanchez S, Zhu M, Blom H, Ahlberg PE.

Biol Rev Camb Philos Soc. 2017 May;92(2):1189-1212. doi: 10.1111/brv.12277. Epub 2016 May 19. Review.

PMID:
27194072
44.

Sodium pump organization in dendritic spines.

Blom H, Bernhem K, Brismar H.

Neurophotonics. 2016 Oct;3(4):041803. doi: 10.1117/1.NPh.3.4.041803. Epub 2016 May 4.

45.

High density of REC8 constrains sister chromatid axes and prevents illegitimate synaptonemal complex formation.

Agostinho A, Manneberg O, van Schendel R, Hernández-Hernández A, Kouznetsova A, Blom H, Brismar H, Höög C.

EMBO Rep. 2016 Jun;17(6):901-13. doi: 10.15252/embr.201642030. Epub 2016 May 11.

46.

Super-resolution microscopy reveals γ-secretase at both sides of the neuronal synapse.

Schedin-Weiss S, Caesar I, Winblad B, Blom H, Tjernberg LO.

Acta Neuropathol Commun. 2016 Mar 31;4:29. doi: 10.1186/s40478-016-0296-5.

47.

MRI and (1)H-MRS in adenosine kinase deficiency.

Staufner C, Blom HJ, Dionisi-Vici C, Freisinger P, Makhseed N, Ballhausen D, Kölker S, Hoffmann GF, Harting I.

Neuroradiology. 2016 Jul;58(7):697-703. doi: 10.1007/s00234-016-1676-z. Epub 2016 Mar 18.

PMID:
26993811
48.

Super-resolution structured illumination fluorescence microscopy of the lateral wall of the cochlea: the Connexin26/30 proteins are separately expressed in man.

Liu W, Edin F, Blom H, Magnusson P, Schrott-Fischer A, Glueckert R, Santi PA, Li H, Laurell G, Rask-Andersen H.

Cell Tissue Res. 2016 Jul;365(1):13-27. doi: 10.1007/s00441-016-2359-0. Epub 2016 Mar 4.

PMID:
26941236
49.

No Tryptophan, Tyrosine and Phenylalanine Abnormalities in Children with Attention-Deficit/Hyperactivity Disorder.

Bergwerff CE, Luman M, Blom HJ, Oosterlaan J.

PLoS One. 2016 Mar 3;11(3):e0151100. doi: 10.1371/journal.pone.0151100. eCollection 2016.

50.

Bioelectric and Morphological Response of Liquid-Covered Human Airway Epithelial Calu-3 Cell Monolayer to Periodic Deposition of Colloidal 3-Mercaptopropionic-Acid Coated CdSe-CdS/ZnS Core-Multishell Quantum Dots.

Turdalieva A, Solandt J, Shambetova N, Xu H, Blom H, Brismar H, Zelenina M, Fu Y.

PLoS One. 2016 Feb 25;11(2):e0149915. doi: 10.1371/journal.pone.0149915. eCollection 2016.

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